• Six cases of the McKusick-Kaufman syndrome (MKS), including two cases that were diagnosed prenatally, were studied. Review of the 54 previously described cases indicates that postaxial polydactyly and hydrometrocolpos in female patients are the hallmark features of this entity. Other manifestations, such as malformations of gastrointestinal, cardiovascular, and ophthalmic structures, occur less consistently. Affected children require careful medical follow-up. Recurrence of hydrometrocolpos following surgical repair may lead to serious sequelae, such as chronic renal failure. We believe that MKS Is a distinct panethnic genetic entity, inherited in an autosomal recessive fashion, and that the diagnosis should be made only in female patients with hydrometrocolpos and polydactyly or in male patients with polydactyly who have an affected female relative.
Chitayat D, Hahm SYE, Marion RW, Sachs GS, Goldman D, Hutcheon RG, Weiss R, Cho S, Nitowsky HM. Further Delineation of the McKusick-Kaufman Hydrometrocolpos-Polydactyly Syndrome. Am J Dis Child. 1987;141(10):1133–1136. doi:10.1001/archpedi.1987.04460100111042